Novel mutation in the
SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney.
BMC Nephrology 2017 18:140
Published on: 26 April 2017